{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354642018",
  "communityStandardTitle": [
    "NM_005862.3(STAG1):c.3262C>T (p.Arg1088Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136068009G>A?assembly=hg19",
        "id": "chr3:g.136068009G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136349167G>A?assembly=hg38",
        "id": "chr3:g.136349167G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1936343493",
        "rs": 1936343493
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 136349167,
          "referenceAllele": "G",
          "start": 136349166
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136349167G>A",
        "CM000665.2:g.136349167G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 136068009,
          "referenceAllele": "G",
          "start": 136068008
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136068009G>A",
        "CM000665.1:g.136068009G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 137550699,
          "referenceAllele": "G",
          "start": 137550698
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137550699G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000383202.7:c.3262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372689.2:p.Arg1088Ter",
        "hgvsWellDefined": "ENSP00000372689.2:p.Arg1088_Phe1258delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383202.7:c.3262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005862.3:c.3262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372689.2:p.Arg1088Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005853.2:p.Arg1088Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000236698.9:c.3262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236698.5:p.Arg1088Ter",
        "hgvsWellDefined": "ENSP00000236698.5:p.Arg1088_Phe1221delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3519,
          "referenceAllele": "C",
          "start": 3518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000383202.6:c.3262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372689.2:p.Arg1088Ter",
        "hgvsWellDefined": "ENSP00000372689.2:p.Arg1088_Phe1258delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3452,
          "referenceAllele": "C",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000434713.6:c.2482C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404396.2:p.Arg828Ter",
        "hgvsWellDefined": "ENSP00000404396.2:p.Arg828_Phe998delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000465961.1:n.368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3825,
          "referenceAllele": "C",
          "start": 3824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000483235.5:c.*3252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419093.1:n.*3252C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3648,
          "referenceAllele": "C",
          "start": 3647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "ENST00000629124.2:c.*2901C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486745.1:n.*2901C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069405853",
      "coordinates": [
        {
          "allele": "T",
          "end": 3554,
          "referenceAllele": "C",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "NM_005862.2:c.3262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005853.2:p.Arg1088Ter",
        "hgvsWellDefined": "NP_005853.2:p.Arg1088_Phe1258delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3758,
          "referenceAllele": "C",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512329.1:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510631.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_011510631.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2951,
          "referenceAllele": "C",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512330.1:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510632.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_011510632.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3642,
          "referenceAllele": "C",
          "start": 3641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512331.1:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510633.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_011510633.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2719,
          "referenceAllele": "C",
          "start": 2718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512332.1:c.2584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510634.1:p.Arg862Ter",
        "hgvsWellDefined": "XP_011510634.1:p.Arg862_Phe1032delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3067,
          "referenceAllele": "C",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512333.1:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510635.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_011510635.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3758,
          "referenceAllele": "C",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512329.2:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510631.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_011510631.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3688,
          "referenceAllele": "C",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_011512331.2:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510633.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_011510633.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3432,
          "referenceAllele": "C",
          "start": 3431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_017005523.1:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861012.1:p.Arg951Ter",
        "hgvsWellDefined": "XP_016861012.1:p.Arg951_Phe1121delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3628,
          "referenceAllele": "C",
          "start": 3627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_017005524.2:c.2584C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861013.1:p.Arg862Ter",
        "hgvsWellDefined": "XP_016861013.1:p.Arg862_Phe1032delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "C",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "XM_017005525.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861014.1:p.Arg651Ter",
        "hgvsWellDefined": "XP_016861014.1:p.Arg651_Phe821delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069405853",
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011354",
      "geneNCBI_id": 10274,
      "geneSymbol": "STAG1",
      "hgvs": [
        "NM_005862.3:c.3262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005853.2:p.Arg1088Ter",
        "hgvsWellDefined": "NP_005853.2:p.Arg1088_Phe1258delinsValGluAspGluSerLeuAspAsnThrTrpLeuAsnArgThrAspThrMetIleGlnThrProGlyProLeuProAlaProGlnLeuThrSerThrValLeuArgGluAsnSerArgProMetGlyAspGlnIleGlnGluProGluSerGluHisGlySerGluProAspPheLeuHisAsnProGlnMetGlnIleSerTrpLeuGlyGlnProLysLeuGluAspLeuAsnArgLysAspArgThrGlyMetAsnTyrMetLysValArgThrGlyValArgHisAlaValArgGlyLeuMetGluGluAspAlaGluProIlePheGluAspValMetMetSerSerArgSerGlnLeuGluAspMetAsnGluGluPheGluAspThrMetValIleAspLeuProProSerArgAsnArgArgGluArgAlaGluLeuArgProAspPhePheAspSerAlaAlaIleIleGluAspAspSerGlyPheGlyMetProMetPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000383202.7:c.3262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005862.3:c.3262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372689.2:p.Arg1088Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005853.2:p.Arg1088Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}